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L Crippa

Publications and source records attributed to L Crippa.

At least 55 records · Page 3Linked to original sources
PubMed1982

[Familial observation of partial trisomy 6, and probable partial monosomy 18q by parental translocation].

Partial trisomy 6q (6q23 leads to qter), resulting from a non-balanced translocation 6/18, was detected in a child and his paternal uncle. Features of note in the uncle included micrognathia, scoliosis and mild mental retardation. The child presented a moderate hypertelorism, a flat nose bridge, carp-shaped mouth and minimal cutaneous syndactyly of the 2nd-3rd toes. These clinical signs have also been mentioned in the few cases of partial trisomy 6q described in the literature. In addition, our two patients present a cubital deviation of the fingers and, in the uncle, urinary tract malformations. The transmission of the 6/18 translocation in this family is discussed.

Child↗
PubMed1981

[Implications for genetic counselling in regard to sex chromosome aneuploidies diagnosed by amniocentesis (author's transl)].

It is in the detection of chromosomal aneuploidies that amniocentesis currently renders the greatest service. However, when an anomaly of the fetal sex chromosomes is found, the decision of what attitude to hold in counselling the parents poses a real dilemma, due to the importance of phenotypic variation-notably of intelligence and behavior-in individuals with sex chromosome disorders. It is in such situations that the need for information furnished by prospective studies is particularly evident. Prenatal diagnosis of four cases of sex chromosomal polysomy, detected in the course of approximately 600 amniocenteses, is presented, as are the criteria which may guide the parents in their decision to continue or to terminate a pregnancy so affected.

Amniocentesis↗
PubMed1981

[Significance of chromosomal mosaicism diagnosed by amniocentesis].

Second-trimester amniocentesis, performed in a 39-year-old woman, revealed on two different taps a weak aneuploid cell line 47,XY+C or X (2 clones), with a strong majority of fetal cells being 46,XY normal (15 clones). A chromosome examination carried out on cord blood after the birth of a phenotypically normal infant confirmed the presence of mosaicism, with 12% of the cells being 47,XXY. The authors consider the manner in which mosaicism diagnosed by amniocentesis may be interpreted, pointing out the danger of hasty conclusions in this domain, which has not yet been adequately explored.

Adult↗
PubMed1981

[Distinctive features of euploid-aneuploid mosaicisms diagnosed by amniocentesis (author's transl)].

Although infrequent, mosaicism in amniotic fluid may lead to a questionable diagnosis. From a personal case and a general review of the literature the authors conclude that euploid-aneuploid mosaicism must be strongly considered as real if it is expressed in more than one clone, in more than one flask, if it is confirmed by a second amniocentesis and if the abnormal cell line is caused by the loss or acquisition of a chromosome compatible with a known pattern or syndrome. Other patterns documented in such a material have to be considered on their own merits as they may or may not be confirmed after birth.

Amniocentesis↗
PubMed1978

[Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? (author's transl)].

Description of a young girl aged 16 1/2 years who presents the typical features of trisomy 18 : small height, microdolichocephaly, anti-mongoloid palpebral fissures, micrognathia, microstomia, arched palate, malformed ears, atrophy of thenars and hypothenars, clinodactyly of fifth fingers and abortive cutaneous syndactyly between IV and V. At the lower limbs, there is a shortening of the right leg, an atrophy of the calves, as well as genua valga and bilateral pes excavatus with dorsiflexion of the toes. The gait is rigid with enlarged basis of sustentation. The results of the cardiac examination point to a minor ventricular septal defect. The development of secondary sexual characters (breasts and body hair) corresponds to the puberal age; the large pudendal lips are hypoplastic. The X-rays show a double left kidney. There is a very severe oligophrenia (I.Q. = 20). Cytogenetic examinations showed a typical trisomy 18 in 100% of observed lymphocytes, while the analysis of cutaneous fibroblasts revealed a mosaicism with 87% of trisomic cells. Out of 11 cases of trisomy 18 with long survival from the literature only 3 cases were of mosaic type. The authors assume that this small number of mosaic cases in trisomy is probably due to the fact that no examination of fibroblasts has been carried out in the seven other cases.

Abnormalities, Multiple↗
PubMed1976

[Cytogenetic and statistical study of a group of patients treated with butazolidine (phenylbutazone)].

The authors studied a group of 16 patients suffering from rheumatic diseases, who were being treated with Butazolidine (Phenylbutazone). The control cases were divided into two groups: one consisted of six patients who were suffering from the same chronic rheumatic diseases, but who were being treated with other drugs; the other group consisted of 15 normal persons whose age and sex corresponded, more or less, with those of the group of patients treated with Butazolidine. A chromosomal examination of the lymphocytes of the peripheral blood was carried out on the 16 patients and the 21 persons not being treated with Butazolidine. A comparison of the karyotypes of all the individuals studied showed no significant difference in the number of breakages between the three groups. Statistical analysis confirmed that the differences in the percentages of chromosomal damage were not significant.

Adult↗
PubMed1976

[A case of Turner's syndrome in 45,X/46,XXp- mosaicism associated with colour-blindness (author's transl)].

We have reported the study of a young girl aged 19 suffering from a gonadal dysgenesis the chromosomal complement of which is 45,X/46,XXp-. The analysis of the transmission of Xg group was insufficient to demonstrate with certainty the origin of the pathological X. The tests indicating the ability to discriminate colours (Ishihara's test and anomaloscopy) showed a protanopia, probably of paternal origin. Hence, the Xp- probably comes from the mother.

Adult↗
PubMed1975

[Cytogenetic study of a case of Fanconi's syndrome with a familial pericentric inversion].

The cytogenetic study of a case of Fanconi syndrome in a 16-year-old boy revealed besides chromosomal breakages, quadriradials and dicentric chromosomes, a pericentric inversion of chromosome No. 1. An uncle and an aunt on the paternal side presented likewise this pericentric inversion, however without breakages or clinical signs of Fanconi syndrome. Another paternal aunt showed short thumbs, but without chromosomal anomalies. The authors point to possible genetic repercussions of this familial pericentric inversion.

Adolescent↗
PubMedDate not supplied

Bbr 2778, an aza-anthracenedione endowed with preclinical anticancer activity and lack of delayed cardiotoxicity.

With the aim to provide second-generation anthracenedione analogues endowed with reduced side effects and a wider spectrum of action than mitoxantrone and doxorubicin, a large number of new molecules bearing nitrogen atoms in the chromophore was synthesized and screened in vitro and in vivo. From this screening, BBR 2778 (6,9-bis[(2-aminoethyl)amino] benzo[g]isoquinoline-5,10-dione dimaleate) emerged as the most interesting compound. BBR 2778 was tested in vitro on several murine and human tumor cell lines and showed cytotoxic potency lower than that of mitoxantrone and doxorubicin. BBR 2778 was more cytotoxic in leukemia and lymphoma cell lines than in solid tumor cell lines. Although against in vivo models BBR 2778 was less potent than mitoxantrone and doxorubicin, its antitumor activity was equal or superior (in certain tumor models) to that of the above standard compounds. In particular, BBR 2778 was curative against L1210 murine leukemia and YC-8 murine lymphoma. Moreover, it showed an antitumor activity comparable to that of mitoxantrone and doxorubicin on solid tumors. No cardiotoxic effect of BBR 2778 in animals not pretreated with anthracyclines was observed compared to standards. In light of its spectrum of activity and marked efficacy against lymphomas and leukemias over a wide dose range, together with its lack of delayed cardiotoxicity, BBR 2778 has been entered in clinical studies.

Animals↗